| 1 | MMDW, SHH |
| A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. | |
| Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B. | |
| Hum Mutat 31(1):81-9.PMID: 19847792 2010 | |
| 2 | MMDW |
| Werner mesomelic dysplasia with Hirschsprung disease. | |
| Goldenberg A, Milh M, de Lagausie P, Mesnage R, Benarif F, de Blois MC, Munnich A, Lyonnet S, Cormier-Daire V. | |
| Am J Med Genet A 123A(2):186-9. 2003 | |
| 3 | MMDW |
| Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome? | |
| Vargas FR, Pontes RL, Llerena Júnior JC, de Almeida JC. | |
| Am J Med Genet 55(3):261-4. 1995 | |